Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
MT | m.3628_3637del | CA2573104450 | MT-ND1 | c.322_331del (p.Thr108Ter) | |
MT | m.3633T>A | CA913169928 | MT-ND1 | c.327T>A (p.Ser109=) | |
MT | m.3633T>C | CA913169927 | MT-ND1 | c.327T>C (p.Ser109=) | dbSNP |
MT | m.3633T>G | CA913169926 | MT-ND1 | c.327T>G (p.Ser109=) | |
MT | m.3633T= | CA2499563530 | MT-ND1 | c.327T= (p.Ser109=) | |
MT | m.3634A= | CA2499563531 | MT-ND1 | c.328A= (p.Ser110=) | |
MT | m.3634A>C | CA414773187 | MT-ND1 | c.328A>C (p.Ser110Arg) | |
MT | m.3634A>G | CA337096615 | MT-ND1 | c.328A>G (p.Ser110Gly) | dbSNP |
MT | m.3634A>T | CA414773186 | MT-ND1 | c.328A>T (p.Ser110Cys) | |
MT | m.3635G>A | CA344827 | MT-ND1 | c.329G>A (p.Ser110Asn) | ClinVar dbSNP |
MT | m.3635G>C | CA414773188 | MT-ND1 | c.329G>C (p.Ser110Thr) | |
MT | m.3635G= | CA2499563532 | MT-ND1 | c.329G= (p.Ser110=) | |
MT | m.3635G>T | CA414773189 | MT-ND1 | c.329G>T (p.Ser110Ile) | |
MT | m.3636C>A | CA414773190 | MT-ND1 | c.330C>A (p.Ser110Arg) | |
MT | m.3636C= | CA2499563533 | MT-ND1 | c.330C= (p.Ser110=) | |
MT | m.3636C>G | CA414773191 | MT-ND1 | c.330C>G (p.Ser110Arg) | |
MT | m.3636C>T | CA913169941 | MT-ND1 | c.330C>T (p.Ser110=) | dbSNP |
MT | m.3637C>A | CA414773192 | MT-ND1 | c.331C>A (p.Leu111Ile) | |
MT | m.3637C= | CA2499563534 | MT-ND1 | c.331C= (p.Leu111=) | |
MT | m.3637C>G | CA414773193 | MT-ND1 | c.331C>G (p.Leu111Val) | |
MT | m.3637C>T | CA337096618 | MT-ND1 | c.331C>T (p.Leu111=) | dbSNP |
MT | m.3638T>A | CA414773194 | MT-ND1 | c.332T>A (p.Leu111Gln) | |
MT | m.3638T>C | CA414773195 | MT-ND1 | c.332T>C (p.Leu111Pro) | |
MT | m.3638T>G | CA414773196 | MT-ND1 | c.332T>G (p.Leu111Arg) | |
MT | m.3638T= | CA2573328127 | MT-ND1 | c.332T= (p.Leu111=) | |
MT | m.3639A= | CA2499563535 | MT-ND1 | c.333A= (p.Leu111=) | |
MT | m.3639A>C | CA913169948 | MT-ND1 | c.333A>C (p.Leu111=) | |
MT | m.3639A>G | CA913169949 | MT-ND1 | c.333A>G (p.Leu111=) | dbSNP |
MT | m.3639A>T | CA913169947 | MT-ND1 | c.333A>T (p.Leu111=) | |
MT | m.3640G>A | CA414773197 | MT-ND1 | c.334G>A (p.Ala112Thr) | ClinVar dbSNP |
MT | m.3640G>C | CA414773199 | MT-ND1 | c.334G>C (p.Ala112Pro) | |
MT | m.3640G= | CA2499563536 | MT-ND1 | c.334G= (p.Ala112=) | |
MT | m.3640G>T | CA414773198 | MT-ND1 | c.334G>T (p.Ala112Ser) | |
MT | m.3641C>A | CA414773200 | MT-ND1 | c.335C>A (p.Ala112Asp) | |
MT | m.3641C= | CA2573328142 | MT-ND1 | c.335C= (p.Ala112=) | |
MT | m.3641C>G | CA414773201 | MT-ND1 | c.335C>G (p.Ala112Gly) | |
MT | m.3641C>T | CA414773202 | MT-ND1 | c.335C>T (p.Ala112Val) | |
MT | m.3642C>A | CA913169966 | MT-ND1 | c.336C>A (p.Ala112=) | |
MT | m.3642C= | CA2573328145 | MT-ND1 | c.336C= (p.Ala112=) | |
MT | m.3642C>G | CA913169967 | MT-ND1 | c.336C>G (p.Ala112=) | |
MT | m.3642C>T | CA913169968 | MT-ND1 | c.336C>T (p.Ala112=) | |
MT | m.3643G>A | CA414773203 | MT-ND1 | c.337G>A (p.Val113Ile) | ClinVar dbSNP COSMIC COSMIC |
MT | m.3643G>C | CA414773204 | MT-ND1 | c.337G>C (p.Val113Leu) | |
MT | m.3643G= | CA2499563537 | MT-ND1 | c.337G= (p.Val113=) | |
MT | m.3643G>T | CA414773205 | MT-ND1 | c.337G>T (p.Val113Phe) | |
MT | m.3644T>A | CA414773206 | MT-ND1 | c.338T>A (p.Val113Asp) | |
MT | m.3644T>C | CA337096620 | MT-ND1 | c.338T>C (p.Val113Ala) | ClinVar dbSNP |
MT | m.3644T>G | CA414773207 | MT-ND1 | c.338T>G (p.Val113Gly) | |
MT | m.3644T= | CA2499563538 | MT-ND1 | c.338T= (p.Val113=) | |
MT | m.3645T>A | CA913169981 | MT-ND1 | c.339T>A (p.Val113=) |